Product Details

SNP ID

rs138579115

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:966574 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCCTCAGGCCCCCAGGAGGCTC[C/T]GGGCCTCCTTCTCCAGAAAGCCCTC

Phenotype

MIM: 610770 MIM: 615921

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KLHL17 PubMed Links

Gene Details

Gene

KLHL17

Gene Name

kelch like family member 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198317.2	755	Intron			NP_938073.1
XM_006710600.3	755	Intron			XP_006710663.1
XM_006710601.3	755	Intron			XP_006710664.1

Gene

NOC2L

Gene Name

NOC2 like nucleolar associated transcriptional repressor

There are no transcripts associated with this gene.

Gene

PERM1

Gene Name

PPARGC1 and ESRR induced regulator, muscle 1

There are no transcripts associated with this gene.

Gene

PLEKHN1

Gene Name

pleckstrin homology domain containing N1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001160184.1	755	Missense Mutation	CGG,TGG	R15W	NP_001153656.1
NM_032129.2	755	Missense Mutation	CGG,TGG	R15W	NP_115505.2
XM_006710944.3	755	Missense Mutation	CGG,TGG	R123W	XP_006711007.2
XM_011542248.2	755	Missense Mutation	CGG,TGG	R123W	XP_011540550.2
XM_017002474.1	755	Missense Mutation	CGG,TGG	R123W	XP_016857963.1
XM_017002475.1	755	Missense Mutation	CGG,TGG	R123W	XP_016857964.1
XM_017002476.1	755	Missense Mutation	CGG,TGG	R123W	XP_016857965.1
XM_017002477.1	755	Missense Mutation	CGG,TGG	R123W	XP_016857966.1
XM_017002478.1	755	Missense Mutation	CGG,TGG	R123W	XP_016857967.1
XM_017002479.1	755	Missense Mutation	CGG,TGG	R123W	XP_016857968.1

View Full Product Details